Canonical Allele Identifier: CA638179044
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1291141263
gnomAD v2: 21-47410747-C-T
gnomAD v4: 21-45990833-C-T
MyVariant Identifiers: chr21:g.47410747C>T (hg19) chr21:g.45990833C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990833C>T , CM000683.2:g.45990833C>T GRCh38
NC_000021.8:g.47410747C>T , CM000683.1:g.47410747C>T GRCh37
NC_000021.7:g.46235175C>T NCBI36
NG_008674.1:g.14085C>T , LRG_475:g.14085C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.1056+7C>T MANE Select ENSP00000355180.3:n.1056+7C>T
ENST00000361866.7:c.1056+7C>T ENSP00000355180.3:n.1056+7C>T
ENST00000612273.1:c.1056+7C>T ENSP00000483630.1:n.1056+7C>T
NM_001848.2:c.1056+7C>T , LRG_475t1:c.1056+7C>T NP_001839.2:n.1056+7C>T
NM_001848.3:c.1056+7C>T MANE Select NP_001839.2:n.1056+7C>T
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